A new antibody study has suggested a genetic variant of the renal gene UMOD could be associated with reduced risk of hypertension and cardiovascular (CV) disease.
In humans, UMOD is located on chromosome 16. It encodes the GPI-anchored Tamm-Horsfall glycoprotein (THP), also known as uromodulin. THP is expressed exclusively in the ascending limb of the Loop of Henle, which plays a role in sodium reabsorption. It is the most abundant protein found in normal urine. It was first identified in the 1950s, although it has only been studied in detail since the 1990s. Studies have suggested uromodulin secretion plays a defence role against urinary tract infections, and in 2005 Bachmann et al suggested the protein plays an important regulatory role in renal transport. In 2008, antibody studies by Lau et al linked reduced levels of uromodulin to calcium crystallization and kidney stone formation, suggesting it could be a useful biomarker.
It is thought UMOD has several variants, though so far only two have been described in full. Now, a study by the University of Glasgow and Istituto Auxologico Italiano of Milano has identified a new variant which could show a lowered genetic risk of developing hypertension or cardiovascular disease. The research was part of a project funded by the European Commission, looking at genetic traits for CVD.
The genome-wide association study looked at SNPs (single nucleotide polymorphisms) of urine proteins of both extremely hypertensive and normotensive subjects. Those showing the UMOD variant expressed less uromodulin in the urine, and were predominantly normotensive. There was an associated lowered risk of CVD. This suggests uromodulin may have a regulatory function in blood pressure, possibly through a sodium linked mechanism. We at Novus Biologicals have ten uromodulin antibodies, lysates and proteins on our antibody database.